Case Report

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22


There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease.

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IssueVol 53, No 12 (2015) QRcode
SectionCase Report(s)
Cat eye syndrome Ocular coloboma Congenital heart defects Vaginal neuroma.

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How to Cite
Mosallanejad A, Sayarifard F, Hosseinverdi S, Abbasi F, Shabni Mirzaee H, Rezaei N. Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22. Acta Med Iran. 53(12):782-784.